Associated Papers
Case Report: A novel missense variant in ZC4H2, c.196C>T p.(Leu66Phe), is associated with a mild, ZC4H2-related X-linked syndromic intellectual disability (ZARD) phenotype.
Garg R et al.
Frontiers in Pediatrics, 2025
40276104 (PubMed )
Supplement: Table1.xlsx › Coiled_coil_domain
Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
Wongkittichote P et al.
Clinical Genetics, 2023
A novel de novo nonsense mutation in ZC4H2 causes Wieacker-Wolff Syndrome.
Wang D et al.
Molecular Genetics & Genomic Medicine, 2020
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Frints SGM et al.
Human Mutation, 2019
Wieacker-Wolff syndrome with associated cleft palate in a female case.
Godfrey ND et al.
American Journal of Medical Genetics. Part A, 2018
ZC4H2 deletions can cause severe phenotype in female carriers.
Zanzottera C et al.
American Journal of Medical Genetics. Part A, 2017
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.
May M et al.
Human Molecular Genetics, 2015
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